A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980685



Internal ID18269199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:75374056..75374913hg38UCSC Ensembl
Innerchr5:74669881..74670738hg19UCSC Ensembl
Innerchr5:74705637..74706494hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38858
hg19858
hg18858
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2365973, nssv2365980, nssv2365981, nssv2365977, nssv2365976, nssv2365974, nssv2365979, nssv2365972, nssv2365978, nssv2365975
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCOL4A3BP
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980685
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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